Variant report

Variant	rs576627
Chromosome Location	chr1:160702475-160702476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs510131	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs544518	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs549295	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs549471	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs565861	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs577052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7521486	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160696800-160703000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:160697200-160702800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:160697200-160703000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:160697200-160711600	Weak transcription	Thymus	Thymus
5	chr1:160698000-160703400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:160698400-160708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:160701000-160703800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:160701400-160704200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:160701800-160704400	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:160701800-160705000	ZNF genes & repeats	GM12878-XiMat	blood
11	chr1:160702000-160703600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:160702000-160704400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:160702200-160704600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:160702400-160702600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:160702400-160702800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:160702400-160703600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:160702400-160704400	Enhancers	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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